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Código SKU: PKSH032981_50μg-ES
Proteína PCBD1 humana recombinante (etiqueta His), 50 μg
La pterina-4-α-carbinolamina deshidratasa (PCBD1) es el miembro fundador de la familia de las pterina-4-α-carbinolamina deshidratasas. PCBD1 participa en la biosíntesis de la tetrahidrobiopterina. Parece prevenir la formación de 7-pterinas y acelerar la formación de quinonoide-BH2. Además, PCBD1 regula la homodimerización del factor de transcripción factor nuclear de hepatocitos 1 (HNF1) y potencia su actividad transcripcional. Los defectos en PCBD1 son la causa de la hiperfenilalaninemia tipo D por deficiencia de BH4 (HPABH4D). La HPABH4D se caracteriza por la excreción de pterinas 7-sustituidas en la orina de los pacientes afectados.
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Brands:Elabscience
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